|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In particular, BDNF may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of MECP2.
|
19096215 |
2008 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
These results suggest an overlapping pathway of gene dysregulation within 15q11-q13 in Rett, Angelman and autism and implicate MeCP2 in the regulation of UBE3A and GABRB3 expressions in the postnatal mammalian brain.
|
15615769 |
2005 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism.
|
27064487 |
2016 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Whether adult neurogenesis may play a role in pathogenesis of autism and the role of MECP2 on state determination of adult neural stem cells (NSCs) remain largely unclear.
|
28139724 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
LHGDN |
Although MECP2 mutations are rare in idiopathic autism, reduced MeCP2 levels are common in autism cortex.
|
19000991 |
2009 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest that MECP2 overexpression can cause the auditory cortex to have atypical response properties, an implication that could be helpful for further understanding the nature of auditory deficits in autism.
|
31133783 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the methyl-CpG-binding protein 2 (MeCP2) cause Rett syndrome, a severe neurodevelopmental disease associated with ataxia and other post-natal symptoms similar to autism.
|
19319913 |
2009 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Briefly, sequencing of exons 1 to 4 of MECP2 is recommended for patients with a Rett syndrome phenotype, unexplained neonatal encephalopathy, an Angelman syndrome phenotype (with negative 15q11-13 analysis), nonspecific mental retardation, or autism (females).
|
22123427 |
2012 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
In studies on related neurodevelopmental disorders, a relationship is suggested between the MECP2 gene and autism-related gene, with overlapping pathways, but this is not common to other neurodevelopmental disorders.
|
15791137 |
2005 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This review explores the commonalities and differences between autism and RTT at clinical and molecular levels with respect to current status and challenges for each, highlights recent findings from the Rare Disease Network Natural History study on RTT, and summarizes the broad range of phenotypes resulting from mutations in the methyl-CpG-binding protein 2 gene (MECP2), which is responsible for RTT in 95% of individuals with the disorder.
|
21825235 |
2011 |
|
Autistic Disorder
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
MECP2, an X-linked gene encoding the epigenetic factor methyl-CpG-binding protein-2, is mutated in Rett syndrome (RTT) and aberrantly expressed in autism.
|
19386901 |
2009 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Reciprocal regulation of autism-related genes MeCP2 and PTEN via microRNAs.
|
26843422 |
2016 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations.
|
10737989 |
2000 |
|
Autistic Disorder
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
These results suggest that the aberrant MECP2 methylation in autism brain DNA samples is due to locus-specific rather than global X chromosome methylation changes.
|
19132145 |
2008 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Based on the published literature, MECP2 is the most autism-associated gene among the identified CNVs.
|
22909152 |
2012 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, MECP2 mutations are not found in patients in which autism remains stable over the years.
|
12707946 |
2003 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These mutations suggest that a possible association between MECP2 mutations and autism may warrant further study.
|
15211631 |
2004 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
MECP2 gene duplication in human causes neuropsychiatric symptoms such as mental retardation and autism.
|
28743991 |
2017 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Misregulation of the methyl-CpG-binding protein 2 (MECP2) gene has been found to cause a myriad of neurological disorders including autism, mental retardation, seizures, learning disabilities, and Rett syndrome.
|
19921286 |
2010 |
|
Autistic Disorder
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
A more frequent occurrence was significantly increased MECP2 promoter methylation in autism male frontal cortex compared to controls.
|
17486179 |
2008 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
MECP2 mutations were also identified in patients with autism without RTT.
|
21600714 |
2011 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our previous studies demonstrated that homologous 15q11-13 pairing in neurons was dependent on MeCP2 and was disrupted in RTT and autism cortex.
|
17339270 |
2007 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Methyl-CpG-binding protein 2 polymorphisms and vulnerability to autism.
|
19125863 |
2008 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The phenotypic spectrum of MECP2 mutations is broad and includes mental retardation with or without seizures, Angelman syndrome-like phenotype, and autism.
|
16225828 |
2005 |